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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
J Am Acad Child Adolesc Psychiatry. 2014;53(8):910-9 - PMID: 25062598
Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G
De novo CNVs in Bipolar Affective Disorder and Schizophrenia.
Hum Mol Genet. 2014;:ePub - PMID: 25055870
Guffanti G, Ashley-Koch AE, Roberts AL, Garrett ME, Solovieff N, Ratanatharathorn A, De Vivo I, Dennis M, Ranu H, Smoller JW, Liu Y, Purcell SM, , Beckham J, Hauser MA, Koenen KC
No association between RORA polymorphisms and PTSD in two independent samples.
Mol Psychiatry. 2014;:ePub - PMID: 25048002
Kemp JP, Medina-Gomez C, Estrada K, St Pourcain B, Heppe DH, Warrington NM, Oei L, Ring SM, Kruithof CJ, Timpson NJ, Wolber LE, Reppe S, Gautvik K, Grundberg E, Ge B, van der Eerden B, van de Peppel J, Hibbs MA, Ackert-Bicknell CL, Choi K, Koller DL, Econs MJ, Williams FM, Foroud T, Zillikens MC, Ohlsson C, Hofman A, Uitterlinden AG, Davey Smith G, Jaddoe VW, Tobias JH, Rivadeneira F, Evans DM
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel Loci in the genetic regulation of bone mass attainment.
PLoS Genet. 2014;10(6):e1004423 - PMID: 24945404 - PMCID: PMC4063697
Francioli LC, Menelaou A, Pulit SL, van Dijk F, Palamara PF, Elbers CC, Neerincx PB, Ye K, Guryev V, Kloosterman WP, Deelen P, Abdellaoui A, van Leeuwen EM, van Oven M, Vermaat M, Li M, Laros JF, Karssen LC, Kanterakis A, Amin N, Hottenga JJ, Lameijer EW, Kattenberg M, Dijkstra M, Byelas H, van Setten J, van Schaik BD, Bot J, Nijman IJ, Renkens I, Marschall T, Schönhuth A, Hehir-Kwa JY, Handsaker RE, Polak P, Sohail M, Vuzman D, Hormozdiari F, van Enckevort D, Mei H, Koval V, Moed MH, van der Velde KJ, Rivadeneira F, Estrada K, Medina-Gomez C, Isaacs A, McCarroll SA, Beekman M, de Craen AJ, Suchiman HE, Hofman A, Oostra B, Uitterlinden AG, Willemsen G, Study LC, Platteel M, Veldink JH, van den Berg LH, Pitts SJ, Potluri S, Sundar P, Cox DR, Sunyaev SR, Dunnen JT, Stoneking M, de Knijff P, Kayser M, Li Q, Li Y, Du Y, Chen R, Cao H, Li N, Cao S, Wang J, Bovenberg JA, Pe'er I, Slagboom PE, van Duijn CM, Boomsma DI, van Ommen GJ, de Bakker PI, Swertz MA, Wijmenga C.
Whole-genome sequence variation, population structure and demographic history of the Dutch population.
Nat Genet. 2014;:ePub - PMID: 24974849
Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, Acuña-Alonzo V, Sandoval K, Eng C, Romero-Hidalgo S, Ortiz-Tello P, Robles V, Kenny EE, Nuño-Arana I, Barquera-Lozano R, Macín-Pérez G, Granados-Arriola J, Huntsman S, Galanter JM, Via M, Ford JG, Chapela R, Rodriguez-Cintron W, Rodríguez-Santana JR, Romieu I, Sienra-Monge JJ, del Rio Navarro B, London SJ, Ruiz-Linares A, Garcia-Herrera R, Estrada K, Hidalgo-Miranda A, Jimenez-Sanchez G, Carnevale A, Soberón X, Canizales-Quinteros S, Rangel-Villalobos H, Silva-Zolezzi I, Burchard EG, Bustamante CD
Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.
Science. 2014;344(6189):1280-5 - PMID: 24926019
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Nat Genet. 2014;:ePub - PMID: 24952745
Lundby A, Rossin EJ, Steffensen AB, Acha MR, Newton-Cheh C, Pfeufer A, Lynch SN, , Olesen SP, Brunak S, Ellinor PT, Jukema JW, Trompet S, Ford I, Macfarlane PW, Krijthe BP, Hofman A, Uitterlinden AG, Stricker BH, Nathoe HM, Spiering W, Daly MJ, Asselbergs FW, van der Harst P, Milan DJ, de Bakker PI, Lage K, Olsen JV
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Nat Methods. 2014;:ePub - PMID: 24952909
SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population.
JAMA. 2014;311(22):2305-2314 - PMID: 24915262
Medland SE, Jahanshad N, Neale BM, Thompson PM
Whole-genome analyses of whole-brain data: working within an expanded search space.
Nat Neurosci. 2014;17(6):791-800 - PMID: 24866045
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
Mol Autism. 2014;5:31 - PMID: 24860643 - PMCID: PMC4032628
Lassen KG, Kuballa P, Conway KL, Patel KK, Becker CE, Peloquin JM, Villablanca EJ, Norman JM, Liu TC, Heath RJ, Becker ML, Fagbami L, Horn H, Mercer J, Yilmaz OH, Jaffe JD, Shamji AF, Bhan AK, Carr SA, Daly MJ, Virgin HW, Schreiber SL, Stappenbeck TS, Xavier RJ
Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.
Proc Natl Acad Sci U S A. 2014;111(21):7741-7746 - PMID: 24821797 - PMCID: PMC4040621
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, Macarthur DG, , Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.
Am J Hum Genet. 2014;94(5):760-9 - PMID: 24791901
Kukurba KR, Zhang R, Li X, Smith KS, Knowles DA, How Tan M, Piskol R, Lek M, Snyder M, Macarthur DG, Li JB, Montgomery SB
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.
PLoS Genet. 2014;10(5):e1004304 - PMID: 24786518 - PMCID: PMC4006732
Szatkiewicz JP, O'Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, Fromer M, Ruderfer D, Akterin S, Bergen SE, Kähler A, Magnusson PK, Kim Y, Crowley JJ, Rees E, Kirov G, O'Donovan MC, Owen MJ, Walters J, Scolnick E, Sklar P, Purcell S, Hultman CM, McCarroll SA, Sullivan PF
Copy number variation in schizophrenia in Sweden.
Mol Psychiatry. 2014;:ePub - PMID: 24776740
Fromer M, Purcell SM
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.
Curr Protoc Hum Genet. 2014;81:7.23.1-7.23.21 - PMID: 24763994
Bigdeli TB, Neale BM, Neale MC
Statistical Properties of Single-Marker Tests for Rare Variants.
Twin Res Hum Genet. 2014;:1-8 - PMID: 24739319
Sham PC, Purcell SM
Statistical power and significance testing in large-scale genetic studies.
Nat Rev Genet. 2014;15(5):335-46 - PMID: 24739678
Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV, , de Wit H, Cox NJ, Palmer AA
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.
Proc Natl Acad Sci U S A. 2014;111(16):5968-73 - PMID: 24711425 - PMCID: PMC4000861
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol. 2014;15(3):R53 - PMID: 24667040
Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, DIAGRAM Consortium, GENIE Consortium, GIANT Consortium, IIBDGC Consortium, PGC Consortium, Daly MJ, Neale BM, Salem RM, Hirschhorn JN
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Am J Hum Genet. 2014;94(3):437-52 - PMID: 24607388 - PMCID: PMC3951950
Bergen SE, O'Dushlaine CT, Lee PH, Fanous AH, Ruderfer DM, Ripke S, , Sullivan PF, Smoller JW, Purcell SM, Corvin A
Genetic modifiers and subtypes in schizophrenia: Investigations of age at onset, severity, sex and family history.
Schizophr Res. 2014;154(1-3):48-53 - PMID: 24581549
Solovieff N, Roberts AL, Ratanatharathorn A, Haloosim M, De Vivo I, King AP, Liberzon I, Aiello A, Uddin M, Wildman DE, Galea S, Smoller JW, Purcell SM, Koenen KC
Genetic Association Analysis of 300 Genes Identifies a Risk Haplotype in SLC18A2 for Posttraumatic Stress Disorder in two Independent Samples.
Neuropsychopharmacology. 2014;:ePub - PMID: 24525708
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Lemieux Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O'Callaghan E, Waddington JL, Walsh D, O'Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, McQuillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G, , , O'Neill FA, , Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Hum Mol Genet. 2014;23(12):3316-26 - PMID: 24474471 - PMCID: PMC4030770
Fowler SA, Ananthakrishnan AN, Gardet A, Stevens CR, Korzenik JR, Sands BE, Daly MJ, Xavier RJ, Yajnik V
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.
J Crohns Colitis. 2014;:ePub - PMID: 24461721
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O'Donovan MC
De novo mutations in schizophrenia implicate synaptic networks.
Nature. 2014;506(7487):179-84 - PMID: 24463507
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O'Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E, Shakir K, Garimella K, Fennell T, Depristo M, Grant SG, Haggarty SJ, Gabriel S, Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P
A polygenic burden of rare disruptive mutations in schizophrenia.
Nature. 2014;506(7487):185-90 - PMID: 24463508
Zuk O, Schaffner SF, Samocha K, Do R, Hechter E, Kathiresan S, Daly MJ, Neale BM, Sunyaev SR, Lander ES
Searching for missing heritability: Designing rare variant association studies.
Proc Natl Acad Sci U S A. 2014;111(4):E455-64 - PMID: 24443550 - PMCID: PMC3910587
Hartz SM, Pato CN, Medeiros H, Cavazos-Rehg P, Sobell JL, Knowles JA, Bierut LJ, Pato MT, , Abbott C, Azevedo MH, Belliveau R, Bevilacqua E, Bromet EJ, Buckley PF, Dewan MJ, Escamilla MA, Fanous AH, Fochtmann LJ, Kinkead R, Kotov R, Lehrer DS, Macciardi F, Malaspina D, Marder SR, McCarroll SA, Moran J, Morley CP, Nicolini H, Perkins DO, Potkin SG, Purcell SM, Rakofsky JJ, Rapaport MH, Scolnick EM, Sklar B, Sklar P, Smoller JW, Sullivan PF, Vivar A
Comorbidity of Severe Psychotic Disorders With Measures of Substance Use.
JAMA Psychiatry. 2014;71(3):248-54 - PMID: 24382686
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